PDF(Pubmed)
Abstract：
Internal anal sphincter achalasia (IASA) is a rare anorectal disorder that presents as chronic refractory constipation in pediatrics. With a poor response to conventional constipation-based therapy, it is often misdiagnosed as other conditions, such as ultra-short-segment Hirschsprung disease. This case report describes a rare case of IASA in an adolescent female, emphasizing the importance of ruling out other differentials, including Hirschsprung disease, via rectal biopsy and thus allowing for earlier targeted therapy to improve lifestyle conditions. A 20-year-old female with a history of IASA presents for semiannual botulism toxin injections. Despite initial relief, her constipation symptoms gradually returned after four to five months. She has had a history of ineffective conventional constipation treatments since childhood, which prompted a further workup. Biopsy results during her teenage years confirmed the presence of ganglionic cells, differentiating IASA from Hirschsprung disease. The management plan involved biannual perianal Botox injections, offering relief for approximately six months. IASA\'s physiological basis involves altered innervation, the absence of nitrergic nerves, and defective neuromuscular junctions in the internal anal sphincter. Diagnosis requires anorectal manometry and a rectal suction biopsy. Treatment options include botulism, toxin injections, and posterior internal anal sphincter myectomy. Botulism injections offer temporary relief, while myectomy provides long-term improvement.
摘要：
肛门内括约肌失弛缓症（IASA）是一种罕见的肛门直肠疾病，在儿科中表现为慢性难治性便秘。对传统的便秘疗法反应不佳，它经常被误诊为其他疾病，如超短节段先天性巨结肠病。这个案例报告描述了一个罕见的IASA在青春期女性，强调排除其他差异的重要性，包括先天性巨结肠病,通过直肠活检，从而允许早期靶向治疗，以改善生活方式条件。一名有IASA病史的20岁女性每年注射一次肉毒杆菌毒素。尽管最初的救济，四到五个月后，她的便秘症状逐渐恢复。她从小就有传统便秘治疗无效的病史，这促使了进一步的工作。她十几岁时的活检结果证实了神经节细胞的存在，将IASA与先天性巨结肠病区分开来。管理计划涉及一年两次的肛周注射肉毒杆菌毒素，提供大约六个月的救济。IASA的生理基础涉及神经支配的改变，没有硝化神经，肛门内括约肌的神经肌肉接头有缺陷.诊断需要肛门直肠测压和直肠抽吸活检。治疗方案包括肉毒杆菌中毒,毒素注射，后肛门内括约肌切除术。肉毒中毒注射可以暂时缓解，而肌切除术提供了长期的改善。
